rs193929363

Merged into

rs80356637

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs193929363(C;C)

Make rs193929363(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17470119

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193929363
dbSNP (classic)	rs193929363
ClinGen	rs193929363
ebi	rs193929363
HLI	rs193929363
Exac	rs193929363
Gnomad	rs193929363
Varsome	rs193929363
LitVar	rs193929363
Map	rs193929363
PheGenI	rs193929363
Biobank	rs193929363
1000 genomes	rs193929363
hgdp	rs193929363
ensembl	rs193929363
geneview	rs193929363
scholar	rs193929363
google	rs193929363
pharmgkb	rs193929363
gwascentral	rs193929363
openSNP	rs193929363
23andMe	rs193929363
SNPshot	rs193929363
SNPdbe	rs193929363
MSV3d	rs193929363
GWAS Ctlg	rs193929363

Status

Merged into rs80356637

Max Magnitude

0

ClinVar
Risk	rs193929363(C;C)
Alt	rs193929363(C;C)
Reference	Rs193929363(T;T)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17491666A>G
CLNSRC	GeneReviews
CLNACC	SCV000040645.1, SCV000040645.1,

[PMID 16613899] A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.